UFM1 ubiquitin fold modifier 1
Gene ID: 51569, updated on 4-Jan-2025Gene type: protein coding
Also known as: HLD14; BM-002; C13orf20
- See all available tests in GTR for this gene
- Go to complete Gene record for UFM1
- Go to Variation Viewer for UFM1 variants
Summary
UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leukodystrophy, hypomyelinating, 14 | See labs |
Genomic context
- Location:
- 13q13.3
- Sequence:
- Chromosome: 13; NC_000013.11 (38349851..38363619)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UFM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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